Heart failure & cardiomyopathiesCohort study
Systemic Manifestations and Mortality Risk in Transthyretin V142I Variant Carriers
- Retrospective cohort study
- matched
Authors' conclusion
These findings highlight the systemic manifestations of variant transthyretin amyloidosis associated with the TTR V142I variant
Study context
- Population
- Individuals of African ancestry enrolled in the Million Veteran Programmatched cohort
- Participants
- 2,658 vs 13,459
- Exposure
- TTR V142I carriers vs matched controls
- V142I carriersn = 2,658
- Controln = 13,459reference
- Outcome
- Heart failure (HF) or cardiomyopathy (CM), atrial fibrillation (AF) or atrial flutter (AFL), carpal tunnel syndrome (CTS), spinal stenosis (SS), neuropathy
Main finding
As reported in the abstract
Established manifestations (multivariable-adjusted)
V142I carriers vs ControlHazard ratio (95% CI)
HF or CM
1.20(1.10–1.31)
AF or AFL
1.26(1.13–1.40)
CTS
1.43(1.30–1.57)
SS
1.17(1.07–1.28)
neuropathy
1.24(1.13–1.36)
Observational data: associations, not effects.
Further findings
| Outcome | HR (95% CI) | |
|---|---|---|
| HF or CM among those with red-flag symptoms (subgroup) — V142I carriers vs Control · with AF or AFL | 1.26 (1.03–1.52) | |
| HF or CM among those with red-flag symptoms (subgroup) — V142I carriers vs Control · with CTS | 1.40 (1.20–1.64) | |
| HF or CM among those with red-flag symptoms (subgroup) — V142I carriers vs Control · with SS | 1.26 (1.06–1.49) | |
| HF or CM among those with red-flag symptoms (subgroup) — V142I carriers vs Control · with neuropathy | 1.28 (1.11–1.48) | |
| All-cause mortality, CV mortality, HF-related hospitalization — V142I carriers vs Control · all-cause mortality | 1.12 (1.01–1.25) | |
| All-cause mortality, CV mortality, HF-related hospitalization — V142I carriers vs Control · CV mortality | 1.37 (1.14–1.65) | |
| All-cause mortality, CV mortality, HF-related hospitalization — V142I carriers vs Control · HF-related hospitalization | 1.25 (1.07–1.45) | |
| 0.512Hazard ratio (log scale) |
Original publication
Systemic Manifestations and Mortality Risk in Transthyretin V142I Variant Carriers. JACC CardioOncol. doi:10.1016/j.jaccao.2025.12.006
Summarised from the published abstract; every number is checked against it